作者: Hiromasa Yamamoto , Shinichi Toyooka , Takashi Ninomiya , Shigemi Matsumoto , Masashi Kanai
DOI: 10.1634/THEONCOLOGIST.2017-0345
关键词: Germline mutation 、 Lung cancer 、 Medicine 、 Bone metastasis 、 Transmembrane protein 、 Afatinib 、 Transmembrane domain 、 Receptor tyrosine kinase 、 Viral Oncogene 、 Cancer research
摘要: We previously reported on a family with hereditary lung cancer, in which germline mutation the transmembrane domain (G660D) of avian erythroblastic leukemia viral oncogene homolog 2 (erb-b2 receptor tyrosine kinase 2) (ERBB2; human epidermal growth factor [HER2]) seemed to be responsible for cancer predisposition. Although few data are available treatment, anti-ERBB2 therapeutic agents may effective ERBB2-mutant cancers. The familial patient one authors' institutes developed bone metastasis enlarging tumors and was treated ERBB2 inhibitor afatinib. also encountered ampullary adenocarcinoma G660D S310F comutations another institute authors', revealed by comprehensive genomic profiling. This then afatinib achieved transitory response. searched mutations various types cancers PubMed, Cancer Genome Atlas (TCGA), Memorial Sloan Kettering-Integrated Mutation Profiling Actionable Targets (MSK-IMPACT) database. Besides our two cases, patients V659E were found via PubMed. Three potential TCGA. In addition, MSK-IMPACT allowed identification three additional urothelial carcinomas adenocarcinomas mutations. Our experience suggests that establishing database integrated information regarding clinical genome outcome recurrent but less common is essential implement precision oncology. Key points Rare targetable such as (TMD) can detected profiling.Afatinib (HER2) TMD mutations.In order oncology, it important establish genomes outcomes